Evidence map›Paper›PMID 36292732›Full record

ArticleGenes2022

Matthias Christen, Jos Bongers, Déborah Mathis, Vidhya Jagannathan, Rodrigo Gutierrez Quintana, Tosso Leeb

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 39% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 2 countries.

Matthias ChristenVetsuisse Faculty, Institute of Genetics, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0003-3275-5929
Jos BongersNeurology and Neurosurgery Service, The School of Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.
Déborah MathisUniversity Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.ORCID 0000-0002-2326-7782
Vidhya JagannathanVetsuisse Faculty, Institute of Genetics, University of Bern, 3001 Bern, Switzerland.
Rodrigo Gutierrez QuintanaNeurology and Neurosurgery Service, The School of Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.ORCID 0000-0002-3570-2542
Tosso LeebVetsuisse Faculty, Institute of Genetics, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0003-0553-4880
University of Bern · CHUniversity of Glasgow · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 3-year-old, male neutered Cavalier King Charles Spaniel (CKCS) presented with complex focal seizures and prolonged lethargy. The aim of the study was to investigate the clinical signs, metabolic changes and underlying genetic defect. Blood and urine organic acid analysis revealed increased medium-chain fatty acids and together with the clinical findings suggested a diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. We sequenced the genome of the affected dog and compared the data to 923 control genomes of different dog breeds. The

Indexed as

Codon, NonsenseLipid Metabolism, Inborn ErrorsAcyl-CoA DehydrogenaseAnimalsChild, PreschoolDogsFatty AcidsHumansMaleAcyl-CoA DehydrogenaseCodon, NonsenseFatty AcidsCanis lupus familiarisdogfatty acid disordermetabolismneurologyprecision medicineseizure

Identifiers

PMID36292732
PMCPMC9601649
OpenAlexW4306149300

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.